Canonical Allele Identifier: CA9556286
Gene: FUT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2220632
ClinVar RCV Id: RCV004083699
dbSNP Id: rs367923363
ExAC: 19:49206800 T / G
gnomAD v2: 19-49206800-T-G
gnomAD v3: 19-48703543-T-G
gnomAD v4: 19-48703543-T-G
MyVariant Identifiers: chr19:g.49206800T>G (hg19) chr19:g.48703543T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48703543T>G , CM000681.2:g.48703543T>G GRCh38
NC_000019.9:g.49206800T>G , CM000681.1:g.49206800T>G GRCh37
NC_000019.8:g.53898612T>G NCBI36
NG_007511.1:g.12573T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000425340.3:c.587T>G MANE Select ENSP00000387498.2:p.Val196Gly
ENST00000522966.2:c.587T>G ENSP00000430227.2:p.Val196Gly
ENST00000391876.5:c.587T>G ENSP00000375748.4:p.Val196Gly
ENST00000425340.2:c.587T>G ENSP00000387498.2:p.Val196Gly
ENST00000522966.1:c.587T>G ENSP00000430227.1:p.Val196Gly
NM_000511.5:c.587T>G NP_000502.4:p.Val196Gly
NM_001097638.2:c.587T>G NP_001091107.1:p.Val196Gly
NR_131188.1:n.306A>C
NM_000511.6:c.587T>G MANE Select NP_000502.4:p.Val196Gly
NM_001097638.3:c.587T>G NP_001091107.1:p.Val196Gly
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